Incidental Mutation 'IGL02494:Bglap2'
ID295796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bglap2
Ensembl Gene ENSMUSG00000074486
Gene Namebone gamma-carboxyglutamate protein 2
SynonymsmOC-B, OG2, bone Gla protein, osteocalcin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #IGL02494
Quality Score
Status
Chromosome3
Chromosomal Location88377736-88378699 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 88377936 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 74 (C74*)
Ref Sequence ENSEMBL: ENSMUSP00000096555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098956]
Predicted Effect probably null
Transcript: ENSMUST00000098956
AA Change: C74*
SMART Domains Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486
AA Change: C74*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107540
SMART Domains Protein: ENSMUSP00000103164
Gene: ENSMUSG00000078691

DomainStartEndE-ValueType
Pfam:HlyIII 5 127 3.4e-21 PFAM
transmembrane domain 148 170 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179946
SMART Domains Protein: ENSMUSP00000135989
Gene: ENSMUSG00000096792

DomainStartEndE-ValueType
Pfam:HlyIII 4 102 1.7e-16 PFAM
transmembrane domain 121 143 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a hormone that is secreted by osteoblasts and may function in bone remodeling and energy metabolism. Homozygous knockout mice for this gene exhibit a gradual increase in bone size, density and strength, as well as elevated adiposity and impaired glucose tolerance. This gene is present in a gene cluster with other related genes on chromosome 3. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 C178Y possibly damaging Het
Arg2 A G 12: 79,151,923 R242G probably benign Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cdk13 G A 13: 17,739,125 R890* probably null Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Naca G A 10: 128,041,310 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign Het
Other mutations in Bglap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Bglap2 APN 3 88378012 splice site probably null
R0402:Bglap2 UTSW 3 88378245 missense probably damaging 1.00
R0694:Bglap2 UTSW 3 88378416 missense possibly damaging 0.64
R1846:Bglap2 UTSW 3 88378625 unclassified probably benign
R5114:Bglap2 UTSW 3 88382125 unclassified probably benign
R7331:Bglap2 UTSW 3 88378260 missense possibly damaging 0.94
R7677:Bglap2 UTSW 3 88377973 missense probably damaging 1.00
R7696:Bglap2 UTSW 3 88378616 missense unknown
R7845:Bglap2 UTSW 3 88378694 start gained probably benign
R7928:Bglap2 UTSW 3 88378694 start gained probably benign
Posted On2015-04-16